Omenn syndrome with mutation in RAG1 gene.
Indian J Pediatr
;
2008 Sep; 75(9): 944-6
Article
Dans Anglais
| IMSEAR
| ID: sea-82729
ABSTRACT
Omenn syndrome is a form of severe combined immunodeficiency associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. Inherited hypomorphic mutations in the recombination activating genes 1 and 2 (RAG1 and RAG2) and in ARTEMIS genes and more recently defects in IL7RA, and RMRP genes have been described to be responsible of this peculiar immunodeficiency. The authors report here a Moroccan patient of four-months-old with classical features of Omenn syndrome, carrying a deletion at the N terminal part of RAG1. Early recognition of this condition is important for genetic counseling and early treatment.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Splénomégalie
/
Syndrome
/
Femelle
/
Humains
/
Protéines nucléaires
/
Réarrangement des gènes des lymphocytes T
/
Immunodéficience combinée grave
/
Dermatite exfoliatrice
/
Protéines à homéodomaine
/
Protéines de liaison à l'ADN
Pays comme sujet:
Afrique
langue:
Anglais
Texte intégral:
Indian J Pediatr
Année:
2008
Type:
Article
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